ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA277698
Gene: TMEM67
HGNC
NCBI
Linked Data
ClinVar Variation Id:
217714
ClinVar RCV Id:
RCV000201553
RCV000435911
RCV003765306
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_714915.3:p.Pro82Arg
CA277696
NM_153704.6:c.245C>G